Saturday, March 28, 2009

Cicily is scheduled for an excision of granuloma and a spinal tap on Monday 30th. Dr. Mancuso will flip out a little ball of scar tissue in her trachea and cut it out, then Dr. Black (anesthesiologist) will perform a spinal tap to see if anything shows up to solve the mobility mystery. Sounds easy enough - we'll see. Then the optimistic plan if all goes perfectly is for Cis to stay in the PICU for 3 days capping and pulling out her trach and she'll come home trachless. I'm cautious as this trach process has not gone anywhere near perfectly for the last 5 months and I'm tired of getting my hopes up. Prayers, as always are greatly appreciated and are always helpful.

Friday, March 20, 2009

Cicily is finally (after waiting 2 months for insurance) wearing orthotics on her legs to help her stability. They are technically AFOs, ankle foot orthotics. Maya may correct you as she did her aunt if you try to call them braces. Are you thinking what I think everyday when I put them on, "how much more gear can you put on a little body??" The plus side - she does get to wear expensive skater shoes that I'm sure someone thinks are cool.

Cicily is not a fan of the AFOs. She hasn't learned how to maneuver and crawl in them yet, so they actually limit her mobility at this point. I'm sure she'll get it sometime, I just hope it's soon! They do really help her gait though when we hold her hands and she walks. They also help her legs stay at a better angle when she stands at the couch and make her more stable.

Don't worry, the walking equipment plans aren't over yet. In addition to AFOs she may also get to sport a spandex compression suit to help her stability, and not just an old-lady walker, but a super walker called a gait trainer! Of course none of it sounds like a great time to me, but if it is a step in her gaining the ability to walk, I'm for it. Hell, if it'd help, I'd put her in a bubble of pickle juice all day!!!

Saturday, March 14, 2009

So we had 2 more neurology appointments this week and found out a little more info. Apparently Cicily has no white matter. I asked the doctor how she's able to do anything at all without any white matter and he basically said what they see on the MRI doesn't really add up with what Cicily is doing (average mental capabilities, crawling, signing, etc.). The other neurologist said that newborns can't do anything but flail around and cry because they don't have any white matter in their brains. So basically Cis should act like a newborn; but she doesn't?!? We're of course, not sure why or what this means, but we'll gladly accept it.It is also clear that Cicily never developed myelination. Her status can't really deteriorate, because as Chris put it, you can't get any worse than zero!I also wanted to make clear that hypomyelination does not occur with Treacher Collins Syndrome - ever (that anyone knows about). However, we've always been skeptical that Cis has TCS as her genetic tests come back without the TCS gene change and her facial appearance is slightly different from classic TCS. The 3 geneticists we've seen feel TCS is still the best fit for her though, and we agree. I've wondered if Cicily's body may have some protein issues that affect both her TCS characteristics and her hypomyelination, as they both can be caused by proteins not working correctly. We're still doing the spinal tap on the 30th and the neuro-genetics docs are getting back to us on what tests they want to do - genetic, metabolic, fatty acid chains were mentioned.We are very glad to be working with good neurologists and a geneticist who all seem to be very intrigued by Cis' mysterious, unheard of combination of characteristics. So far they are all doing their research to try and solve the puzzle. We hope they continue to be interested! Chris hopes Cis makes it into some medical journals as "patient A".

New to Cicily's blog? Read some FAQs about Cicily:

Cicily at 8 years old

About Cicily

Cicily has degenerative hypomyelination (leukodystrophy) - no white matter coating her brain, which is terminal. For Cicily, this means she has limited motor control and "shakey" movements. It does not affect Cicily's cognitive abilities, as she communicates and learns at a standard level for her age.

Cicily also has Treacher Collins Syndrome. For Cicily this basically means she was born with a cleft palate, small lower jaw, small ears, and no ear canals.

Cis is such a tough girl though, and she's so easy going. She handles all of her difficulties so well. She's certainly up for her challenges! She continues to be a medical mystery and a joyful girl.